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Blindness-scoliosis-arachnodactyly syndrome

Disease definition

This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.

ORPHA:171844

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent
  • ICD-10: Q87.5
  • ICD-11: LD28.Y
  • OMIM: 612445
  • UMLS: C2676234
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

The syndrome has been described in four patients (three males and one female) from the same family.

Clinical description

The male patients presented with the complete phenotype while the female patient suffered only from blindness.

Etiology

No mutations were found in the FBN1, TGFBR1 and TGFBR2 genes which are associated with other syndromes presenting similar clinical findings (i.e. Marfan syndrome; see this term).

Genetic counseling

Transmission seems autosomal dominant.

- Last update: October 2009

  A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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